Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

被引:0
|
作者
Richard Bergholz
Alfried Kohlschütter
Angela Schulz
Waltraud Hubert
Klaus Rüther
机构
[1] Charité – Universitätsmedizin Berlin,Department of Ophthalmology
[2] University Medical Center Eppendorf,Children’s Hospital
[3] Sankt Gertrauden-Krankenhaus,Department of Ophthalmology
[4] Charité Augenklinik Campus Virchow-Klinikum,undefined
来源
Graefe's Archive for Clinical and Experimental Ophthalmology | 2015年 / 253卷
关键词
Neuronal ceroid lipofuscinosis; CLN3; Batten disease; Electroretinography; Optical coherence tomography;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1245 / 1250
页数:5
相关论文
共 50 条
  • [1] Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations
    Bergholz, Richard
    Kohlschuetter, Alfried
    Schulz, Angela
    Hubert, Waltraud
    Ruether, Klaus
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2015, 253 (08) : 1245 - 1250
  • [2] Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
    Ouseph, Madhu M.
    Kleinman, Mark E.
    Wang, Qing Jun
    TARGETING THE LYSOSOME, 2016, 1371 : 55 - 67
  • [3] Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
    Borgione, Eugenia
    Castello, Filippa
    Lo Giudice, Mariangela
    Paola, Sandro Santa
    Salvatore, Simona
    Berti, Gianna
    Malandrini, Alessandro
    Bottitta, Maria
    Musumeci, Sebastiano Antonino
    Scuderi, Carmela
    NEUROLOGICAL SCIENCES, 2016, 37 (05) : 805 - 807
  • [4] Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
    Eugenia Borgione
    Filippa Castello
    Mariangela Lo Giudice
    Sandro Santa Paola
    Simona Salvatore
    Gianna Berti
    Alessandro Malandrini
    Maria Bottitta
    Sebastiano Antonino Musumeci
    Carmela Scuderi
    Neurological Sciences, 2016, 37 : 805 - 807
  • [5] Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis
    Oswald, MJ
    Palmer, DN
    Damak, S
    MOLECULAR GENETICS AND METABOLISM, 1999, 67 (02) : 169 - 175
  • [6] Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life
    Preising, Markus N.
    Abura, Michaela
    Jaeger, Melanie
    Wassill, Klaus-Heiko
    Lorenz, Birgit
    OPHTHALMIC GENETICS, 2017, 38 (03) : 252 - 259
  • [7] Astrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities
    Bosch, Megan E.
    Kielian, Tammy
    JOURNAL OF NEUROCHEMISTRY, 2019, 148 (05) : 612 - 624
  • [8] A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis
    Drack, Arlene V.
    Miller, Jake N.
    Pearce, David A.
    JOURNAL OF CHILD NEUROLOGY, 2013, 28 (09) : 1112 - 1116
  • [9] in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels
    Mohammed, Alamin
    O'Hare, Megan B.
    Warley, Alice
    Tear, Guy
    Tuxworth, Richard I.
    NEUROBIOLOGY OF DISEASE, 2017, 103 : 123 - 132
  • [10] Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers
    Kozina, Anastasiya A.
    Okuneva, Elena G.
    Baryshnikova, Natalia, V
    Kondakova, Olga B.
    Nikolaeva, Ekaterina A.
    Fedoniuk, Inessa D.
    Mikhailova, Svetlana, V
    Krasnenko, Anna Y.
    Stetsenko, Ivan F.
    Plotnikov, Nikolay A.
    Klimchuk, Olesia, I
    Popov, Yaroslav, V
    Surkova, Ekaterina, I
    Shatalov, Peter A.
    Rakitko, Alexander S.
    Ilinsky, Valery V.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (07):